KRT6B Gene Pachyonychia Congenita Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin and Nail Disorders
The KRT6B Gene Pachyonychia Congenita Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic skin conditions. This advanced testing methodology utilizes cutting-edge Next-Generation Sequencing technology to provide definitive answers for patients and families affected by this challenging disorder. As a specialized genetic test developed by leading dermatologists and genetic specialists, it offers unparalleled accuracy in detecting the specific mutations responsible for Pachyonychia Congenita Type 4.
What Does This Test Detect?
This comprehensive genetic analysis specifically targets the KRT6B gene, which encodes keratin 6B – a crucial structural protein essential for maintaining the integrity of skin, nails, and mucous membranes. The test identifies:
- Pathogenic mutations in the KRT6B gene sequence
- Single nucleotide variants (SNVs) affecting keratin structure
- Insertion and deletion mutations disrupting protein function
- Genetic variations associated with autosomal dominant inheritance patterns
- Specific mutations linked to the characteristic clinical features of PC-4
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with the following symptoms or clinical indications:
- Thickened Nails (Pachyonychia): Progressive nail thickening and discoloration starting in infancy or early childhood
- Painful Palmoplantar Keratoderma: Thickened skin on palms and soles causing significant discomfort
- Oral Leukokeratosis: White patches and thickening of oral mucous membranes
- Follicular Keratosis: Bumpy skin texture on elbows, knees, and other body areas
- Family History: Individuals with relatives diagnosed with Pachyonychia Congenita
- Unexplained Dermatological Symptoms: Patients with complex skin and nail abnormalities without clear diagnosis
- Genetic Counseling Candidates: Couples planning pregnancy with family history of the condition
Clinical Benefits of Genetic Testing
Undergoing the KRT6B Gene Pachyonychia Congenita Type 4 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out PC-4 with molecular precision
- Personalized Treatment Planning: Enables targeted therapeutic approaches based on specific mutation type
- Genetic Counseling Support: Provides essential information for family planning decisions
- Early Intervention Opportunities: Facilitates proactive management of symptoms before they become severe
- Differential Diagnosis: Helps distinguish PC-4 from other similar dermatological conditions
- Research Contribution: Contributes to ongoing scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling team provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic KRT6B mutation confirming PC-4 diagnosis
- Negative Result: Suggests absence of known PC-4 causing mutations in the KRT6B gene
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| KRT6B Gene Pachyonychia Congenita Type 4 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward definitive diagnosis and personalized care. Our experienced genetic counselors and dermatology specialists are ready to assist you through every step of the testing process. Contact us today to schedule your appointment or learn more about this essential genetic testing service.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, discuss insurance coverage options, and help you understand how genetic testing can benefit your specific situation. Don’t wait to get the answers you need for better health management and peace of mind.
